Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 24 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410

Publications

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

FGFR2 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature

4 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410

4 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for FGFR2 were set to 9605588

4 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for FGFR2 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 1

Upload gene information

Alice Gardham (Genomics England)

FGFR2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FGFR2 was created by ellenmcdonagh